Canonical Allele Identifier: CA1718353

Gene: DGUOK DGUOK-AS1

Linked Data

• dbSNP Id: rs755114361
• ExAC: 2:74185322 A / G
• gnomAD v2: 2-74185322-A-G
• gnomAD v3: 2-73958195-A-G
• gnomAD v4: 2-73958195-A-G
• MyVariant Identifiers: chr2:g.74185322A>G (hg19) ; chr2:g.73958195A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73958195A>G , CM000664.2:g.73958195A>G	GRCh38
NC_000002.11:g.74185322A>G , CM000664.1:g.74185322A>G	GRCh37
NC_000002.10:g.74038830A>G	NCBI36
NG_008044.1:g.36370A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264093.9:c.757A>G (DGUOK) MANE Select	ENSP00000264093.4:p.Asn253Asp
ENST00000264093.8:c.757A>G (DGUOK)	ENSP00000264093.4:p.Asn253Asp
ENST00000348222.3:c.493A>G (DGUOK)	ENSP00000306964.3:p.Asn165Asp
ENST00000418996.5:c.*110A>G (DGUOK)	ENSP00000408209.1:n.*110A>G
ENST00000462685.1:n.586A>G (DGUOK)
ENST00000489796.5:n.642A>G (DGUOK)
ENST00000629438.2:c.*374A>G (DGUOK)	ENSP00000487122.1:n.*374A>G
NM_080916.2:c.757A>G (DGUOK)	NP_550438.1:p.Asn253Asp
NM_080918.2:c.493A>G (DGUOK)	NP_550440.1:p.Asn165Asp
NR_104029.1:n.344T>C (DGUOK-AS1)
NR_104030.1:n.318T>C (DGUOK-AS1)
XM_005264173.2:c.466A>G (DGUOK)	XP_005264230.1:p.Asn156Asp
XM_005264174.1:c.466A>G (DGUOK)	XP_005264231.1:p.Asn156Asp
XM_011532647.1:c.739A>G (DGUOK)	XP_011530949.1:p.Asn247Asp
XM_011532648.1:c.448A>G (DGUOK)	XP_011530950.1:p.Asn150Asp
XR_244926.2:n.722A>G (DGUOK)
NM_001318859.1:c.475A>G (DGUOK)	NP_001305788.1:p.Asn159Asp
NM_001318860.1:c.466A>G (DGUOK)	NP_001305789.1:p.Asn156Asp
NM_001318861.1:c.466A>G (DGUOK)	NP_001305790.1:p.Asn156Asp
NM_001318862.1:c.448A>G (DGUOK)	NP_001305791.1:p.Asn150Asp
NM_001318863.1:c.448A>G (DGUOK)	NP_001305792.1:p.Asn150Asp
NR_134893.1:n.465A>G (DGUOK)
NR_134894.1:n.613A>G (DGUOK)
NR_134895.1:n.277A>G (DGUOK)
NR_134896.1:n.447A>G (DGUOK)
NR_134897.1:n.657A>G (DGUOK)
NR_134898.1:n.581A>G (DGUOK)
XM_011532647.2:c.739A>G (DGUOK)	XP_011530949.1:p.Asn247Asp
XM_024452739.1:c.466A>G (DGUOK)	XP_024308507.1:p.Asn156Asp
XR_001738656.1:n.693A>G (DGUOK)
XR_244926.3:n.724A>G (DGUOK)
NM_080916.3:c.757A>G (DGUOK) MANE Select	NP_550438.1:p.Asn253Asp
NM_001318859.2:c.475A>G (DGUOK)	NP_001305788.1:p.Asn159Asp
NM_001318860.2:c.466A>G (DGUOK)	NP_001305789.1:p.Asn156Asp
NM_001318861.2:c.466A>G (DGUOK)	NP_001305790.1:p.Asn156Asp
NM_001318862.2:c.448A>G (DGUOK)	NP_001305791.1:p.Asn150Asp
NM_001318863.2:c.448A>G (DGUOK)	NP_001305792.1:p.Asn150Asp
NM_080918.3:c.493A>G (DGUOK)	NP_550440.1:p.Asn165Asp
NR_134893.2:n.411A>G (DGUOK)
NR_134894.2:n.559A>G (DGUOK)
NR_134895.2:n.223A>G (DGUOK)
NR_134896.2:n.393A>G (DGUOK)
NR_134897.2:n.603A>G (DGUOK)
NR_134898.2:n.527A>G (DGUOK)